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L. Demmer · SciRah

Researcher profile · Semantic Scholar

L. Demmer

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L. Demmer — researcher profile on SciRah

h-index: 27
Works: 68
Citations: 3,391

Most-cited papers

Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)
Kandamurugu Manickam, Monica R. McClain, L. Demmer, Sawona Biswas +6 more
2021Genetics in Medicine568 citations Open access
Semantic Scholar
Clinical Genetic Testing for Patients With Autism Spectrum Disorders
Yi-Ping Shen, K. Dies, I. Holm, Carolyn Bridgemohan +31 more
2010Pediatrics408 citations Open access
Semantic Scholar
Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.
D. Moreno-De-Luca, J. Mulle, E. B. Kaminsky, Stephan J Sanders +31 more
2010American Journal of Human Genetics341 citations Open access
Semantic Scholar
Effect of Expanded Newborn Screening for Biochemical Genetic Disorders on Child Outcomes and Parental Stress
S. Waisbren, S. Albers, S. Amato, M. Ampola +13 more
2003216 citations
Semantic Scholar
Recommendations for the Integration of Genomics into Clinical Practice
S. Bowdin, A. Gilbert, E. Bedoukian, C. Carew +41 more
2016Genetics in Medicine134 citations Open access
Semantic Scholar
Mutation Spectrum in the Large GTPase Dynamin 2, and Genotype–Phenotype Correlation in Autosomal Dominant Centronuclear Myopathy
J. Böhm, V. Biancalana, E. Dechene, M. Bitoun +64 more
2012Human Mutation133 citations Open access
Semantic Scholar
The cellular retinol binding protein II gene. Sequence analysis of the rat gene, chromosomal localization in mice and humans, and documentation of its close linkage to the cellular retinol binding protein gene.
L. Demmer, E. Birkenmeier, David A. Sweetser, M. Levin +5 more
1987Journal of Biological Chemistry103 citations Open access
Semantic Scholar
Rat cellular retinol-binding protein II: use of a cloned cDNA to define its primary structure, tissue-specific expression, and developmental regulation.
E. Li, L. Demmer, David A. Sweetser, David E. Ong +1 more
1986Proceedings of the National Academy of Sciences of the United States of America103 citations Open access
Semantic Scholar
Tissue-specific expression and developmental regulation of the rat apolipoprotein B gene.
L. Demmer, M. Levin, J. Elovson, Michael A. Reuben +2 more
1986Proceedings of the National Academy of Sciences of the United States of America99 citations Open access
Semantic Scholar
Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability
Jennifer R. Malinowski, David T. Miller, L. Demmer, J. Gannon +6 more
2020Genetics in Medicine98 citations Open access
Semantic Scholar
Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome
E. Bend, E. Aref-Eshghi, D. Everman, R. Rogers +20 more
2019Clinical Epigenetics95 citations Open access
Semantic Scholar
Frasier syndrome: a cause of focal segmental glomerulosclerosis in a 46,XX female.
L. Demmer, W. Primack, V. Loik, Rosalind S. Brown +2 more
1999Journal of the American Society of Nephrology76 citations
Semantic Scholar
Expanding the SHOC2 Mutation Associated Phenotype of Noonan Syndrome with Loose Anagen Hair: Structural Brain Anomalies and Myelofibrosis
K. Gripp, Dina J. Zand, L. Demmer, C. E. Anderson +6 more
2013American Journal of Medical Genetics. Part A70 citations Open access
Semantic Scholar
Male to Male Transmission of Costello Syndrome: G12S HRAS Germline Mutation Inherited from a Father with Somatic Mosaicism
K. Sol‐Church, D. Stabley, L. Demmer, Abigail Agbulos +4 more
2009American Journal of Medical Genetics. Part A69 citations Open access
Semantic Scholar
De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies.
K. Platzer, H. Sticht, S. Edwards, W. Allen +28 more
2019American Journal of Human Genetics62 citations Open access
Semantic Scholar
Prenatal features of Costello syndrome: Ultrasonographic findings and atrial tachycardia
A. Lin, B. O'Brien, L. Demmer, Kristina K. Almeda +8 more
2009Prenatal Diagnosis60 citations Open access
Semantic Scholar
Spectrum of KV2.1 Dysfunction in KCNB1-associated Neurodevelopmental Disorders
Seok Kyu Kang, Carlos G. Vanoye, Sunita N. Misra, Dennis M. Echevarria +28 more
2019Annals of Neurology57 citations Open access
Semantic Scholar
The etiology of thyroid dysgenesis-still an enigma after all these years.
Rosalind S. Brown, L. Demmer
2002Journal of Clinical Endocrinology and Metabolism55 citations
Semantic Scholar
ALG1‐CDG: Clinical and Molecular Characterization of 39 Unreported Patients
B. Ng, S. Shiryaev, D. Rymen, E. Eklund +55 more
2016Human Mutation54 citations Open access
Semantic Scholar
Lessons learned from the introduction of personalized genotyping into a medical school curriculum
D. Walt, Amy B. Kuhlik, S. Epstein, L. Demmer +4 more
2011Genetics in Medicine53 citations Open access
Semantic Scholar
The natural history of trisomy 12p
R. Segel, I. Peter, L. Demmer, J. Cowan +2 more
2006American Journal of Medical Genetics. Part A43 citations
Semantic Scholar
Professional medical education and genomics.
L. Demmer, D. Waggoner
2014Annual review of genomics and human genetics (Print)41 citations
Semantic Scholar
Cornelia de Lange Syndrome in Diverse Populations
Leah Dowsett, A. R. Porras, P. Kruszka, Brandon Davis +63 more
2019American Journal of Medical Genetics. Part A40 citations Open access
Semantic Scholar
PURA-Related Developmental and Epileptic Encephalopathy
K. Johannesen, E. Gardella, C. E. Gjerulfsen, A. Bayat +101 more
2021Neurology: Genetics35 citations Open access
Semantic Scholar
Mouse model implicates GNB3 duplication in a childhood obesity syndrome
Ian Goldlust, K. Hermetz, Lisa M. Catalano, R. Barfield +18 more
2013Proceedings of the National Academy of Sciences of the United States of America34 citations Open access
Semantic Scholar
Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant
R. Hoban, Amy E. Roberts, L. Demmer, R. Jethva +1 more
2012American Journal of Medical Genetics. Part A33 citations
Semantic Scholar
Maternal tea consumption during early pregnancy and the risk of spina bifida.
M. Yazdy, S. Tinker, A. Mitchell, L. Demmer +1 more
2012Birth defects research. Clinical and molecular teratology32 citations Open access
Semantic Scholar
Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities.
M. Wagner, Y. Skorobogatko, B. Pode-Shakked, C. Powell +21 more
2020American Journal of Human Genetics27 citations Open access
Semantic Scholar
A Description of Spina Bifida Cases and Co-Occurring Malformations, 1976–2011
Samantha E. Parker, Mahsa M. Yazdy, Allen A. Mitchell, L. Demmer +1 more
2013American Journal of Medical Genetics. Part A24 citations Open access
Semantic Scholar
Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress.
S. Waisbren, S. Albers, S. Amato, M. Ampola +13 more
2004Journal of the American Medical Association (JAMA)23 citations
Semantic Scholar
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies.
K. Smallwood, Kristin E. N. Watt, Satoru Ide, Kristina Baltrunaite +41 more
2023American Journal of Human Genetics21 citations Open access
Semantic Scholar
Genetics for the Pediatric Anesthesiologist: A Primer on Congenital Malformations, Pharmacogenetics, and Proteomics
J. Galinkin, L. Demmer, M. Yaster
2010Anesthesia and Analgesia16 citations Open access
Semantic Scholar
Newborn screening compared to clinical identification of biochemical genetic disorders
S. Waisbren, Catherine Y. Read, Mary G. Ampola, T. Brewster +9 more
2002Journal of Inherited Metabolic Disease16 citations
Semantic Scholar
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder
T. Brunet, K. McWalter, Katharina Mayerhanser, Grace M Anbouba +57 more
2020Genetics in Medicine15 citations Open access
Semantic Scholar
Autosomal recessive MFN2‐related Charcot‐Marie‐Tooth disease with diaphragmatic weakness: Case report and literature review
Christopher A. Tan, M. Rabideau, Amy Blevins, M. Westbrook +5 more
2016American Journal of Medical Genetics. Part A15 citations
Semantic Scholar
Surveying the current landscape of clinical genetics residency training
Caleb P. Bupp, L. Demmer, R. Saul
2014Genetics in Medicine15 citations Open access
Semantic Scholar
Periventricular white matter cystic lesions in Lowe (Oculocerebrorenal) syndrome
L. Demmer, F. Wippold, S. Dowton
2005Pediatric Radiology15 citations
Semantic Scholar
Grouped papules in Hurler-Scheie syndrome.
James A. Schiro, S. B. Mallory, L. Demmer, S. Dowton +1 more
1996Journal of American Academy of Dermatology13 citations
Semantic Scholar
New England Consortium: A model for medical evaluation of expanded newborn screening with tandem mass spectrometry
S. Albers, S. Waisbren, M. Ampola, T. Brewster +11 more
2001Journal of Inherited Metabolic Disease12 citations
Semantic Scholar
Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability
N. B. Tan, A. Pagnamenta, Matteo P. Ferla, J. Gadian +34 more
2021Journal of Medical Genetics9 citations
Semantic Scholar
Keratoconus in Costello Syndrome
K. Gripp, L. Demmer
2013American Journal of Medical Genetics. Part A9 citations
Semantic Scholar
Growth Hormone Therapy in Progeria
Ab Sadeghi-Nejad, L. Demmer
2007Journal of Pediatric Endocrinology & Metabolism (JPEM)9 citations
Semantic Scholar
The development and implementation of an in-service exam for medical genetics residency programs
N. Robin, V. Sutton, J. Caldwell, J. Jackson +2 more
2012Genetics in Medicine5 citations Open access
Semantic Scholar
Early genetic testing in pediatric epilepsy: Diagnostic and cost implications
Shanna M. Swartwood, A. Morales, K. Hatchell, Chad Moretz +6 more
2023Epilepsia Open4 citations Open access
Semantic Scholar
Development, Implementation, and Assessment of a Genetics Curriculum Across Institutions
S. Dotters-Katz, Ginger Hocutt, C. Osborne, E. Hardisty +2 more
2016American Journal of Perinatology Reports4 citations Open access
Semantic Scholar
Erratum: Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia (The American Journal of Human Genetics (2010) 87 (618-630))
D. Moreno-De-Luca, J. Mulle, E. B. Kaminsky, Stephan J Sanders +31 more
20114 citations Open access
Semantic Scholar
Genetic Syndromes Determined by Alterations in Genomic Imprinting Pathways
Jessica Jonas, L. Demmer
20074 citations
Semantic Scholar
An interdisciplinary interclerkship in genetic testing and ethics.
L. Demmer, Carole M. Totzkay, J. Zapka
2001Academic medicine : journal of the Association of American Medical Colleges4 citations Open access
Semantic Scholar
Simultaneous transfer of four functional genes from the HLA class II region into mammalian cells by fusion with yeast spheroplasts carrying an artificial chromosome.
L. Demmer, David D. Chaplin
1993Journal of Immunology4 citations
Semantic Scholar
An unusual case of nephrotic syndrome in a microcephalic infant: Answers
E. Baker, D. Weaver, S. Massengill, Dana Mittag +2 more
2019Pediatric nephrology (Berlin, West)3 citations
Semantic Scholar

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